Cataract

Disease Term Disease ID Gene Symbol Classification References Source
CATARACT
C0086543MONDO_0005129MONDO:0005129MESH:D002386
SLC7A8 Unknown — Disgenet
SMIM23 Unknown
39024449
GWAS catalog
SMIM38 Unknown
31816047 34127677 34594039 39024449
GWAS catalog
ST6GALNAC4 Unknown
34594039
GWAS catalog
STXBP6 Unknown
34127677
GWAS catalog
TACC3 Unknown
39024449
GWAS catalog
TALDO1 Unknown — Disgenet
TAPT1 Unknown
27878435
Disgenet GWAS catalog
TCF7L2 Unknown
39024449
GWAS catalog
TDRD7 Unknown
21436445
CTD
TENT5C Unknown
34127677
GWAS catalog
THOC7 Unknown
34127677 34594039
GWAS catalog
THSD7A Unknown
31816047
GWAS catalog
TLCD3B Unknown
34127677
GWAS catalog
TMEM86A Unknown
39024449
GWAS catalog
TNKS Unknown
31816047
GWAS catalog
TOP1 Unknown
34594039
GWAS catalog
TRIB2 Unknown
34127677
GWAS catalog
TTC28 Unknown
32514122
GWAS catalog
TYR Unknown
34594039
GWAS catalog
UPF3B Unknown — Disgenet
VIM Unknown
19126778 26694549 28450710
CTD Disgenet
VSTM4 Unknown
34594039
GWAS catalog
WDR87 Unknown
27878435 26622071
Disgenet Orphanet
WRN Unknown — Disgenet
WWP2 Unknown
31816047 34127677 34594039 39024449
GWAS catalog
ZNF800 Unknown
31816047 34127677 34594039
GWAS catalog
ZNF91 Unknown — Disgenet
CATARACT 1 MULTIPLE TYPE S
MONDO:0007285
GJA8 Unknown
14627691 11846744 16604058 9497259 18006672 10480374 29464339 30262699 30373400 30498267 28455998
ClinVar Orphanet
CATARACT 1, MULTIPLE TYPE S
116200
GJA8 Unknown — HPO
CATARACT 10 MULTIPLE TYPE S
MONDO:0010948
CRYBA1 Unknown
14598164 9788845 15111599 20142846 17653060 21139983 21850182 22665976
ClinVar GWAS catalog
CATARACT 10, MULTIPLE TYPE S
600881
CRYBA1 Unknown — HPO
CATARACT 11 MULTIPLE TYPE S
MONDO:0012527
PITX3 Unknown — ClinVar GenCC
CATARACT 11, MULTIPLE TYPE S
610623
PITX3 Unknown — HPO
CATARACT 12 MULTIPLE TYPE S
MONDO:0012701
BFSP2 Unknown
10634598 10729115 21836522
ClinVar GWAS catalog
CATARACT 12, MULTIPLE TYPE S
611597C3808115
BFSP2 Unknown — Disgenet HPO
CATARACT 13 WITH ADULT I PHENOTYPE
116700C3805373MONDO:0007289OMIM:116700
GCNT2 Causal
28224043 11739194 12424189
CTD ClinVar Disgenet GWAS catalog HPO
HPCAL1 Unknown — Disgenet
CATARACT 14 MULTIPLE TYPE S
MONDO:0011162
GJA3 Unknown
10746562 22312188 10205266 15448617 22876138 22550389 21681855 29934635 28877251 29461512 26683566 24772942
ClinVar GWAS catalog
CATARACT 14, MULTIPLE TYPE S
601885
GJA3 Unknown — HPO
CATARACT 15 MULTIPLE TYPE S
MONDO:0014110
MIP Unknown
11001937 10802646 10937580 16564824
CTD ClinVar
CATARACT 15, MULTIPLE TYPE S
615274C3809001OMIM:615274
MIP Unknown — CTD Disgenet HPO
CATARACT 16 MULTIPLE TYPE S
MONDO:0013411
CRYAB Unknown
19597569 21087083 23194663
ClinVar GWAS catalog
CATARACT 16, MULTIPLE TYPE S
C3808377613763OMIM:613763
COL12A1 Unknown — Disgenet
CRYAB Unknown — CTD Disgenet HPO
CATARACT 17 MULTIPLE TYPE S
MONDO:0012688
CRYBB1 Unknown
12360425 16110300 17460281 28272538 31566446
ClinVar GWAS catalog
CATARACT 17, MULTIPLE TYPE S
C3888124611544
CRYBA4 Unknown — Disgenet
CRYBB1 Unknown — Disgenet HPO
CATARACT 18
610019MONDO:0012395
FYCO1 Causal
21636066 11519376 26622071 22935719
ClinVar GWAS catalog HPO
CATARACT 19 MULTIPLE TYPE S
MONDO:0014111
LIM2 Unknown
27814360 11917274 18596884
ClinVar GenCC